Variant report

Variant	esv3370380
Chromosome Location	chr3:20557997-20575540
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:20558136..20559640-chr3:20560230..20563085,2	K562	blood:
2	chr3:20558136..20559640-chr3:20560230..20563085,2	K562	blood:

Extended variants
information (count: 404 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534348484	chr3:20558094-20558095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548758369	chr3:20558116-20558117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147475988	chr3:20558135-20558136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567688794	chr3:20558172-20558173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs663371	chr3:20559407-20559408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192457318	chr3:20559431-20559432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568725812	chr3:20559457-20559458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528737557	chr3:20559463-20559464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533281353	chr3:20559530-20559531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551657253	chr3:20559630-20559631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79228540	chr3:20559651-20559652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533969071	chr3:20559783-20559784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182296235	chr3:20559795-20559796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567729896	chr3:20559847-20559848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186911990	chr3:20559852-20559853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556541699	chr3:20559961-20559962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56845101	chr3:20559983-20559984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566769479	chr3:20560008-20560009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374288596	chr3:20560037-20560038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372946070	chr3:20560057-20560058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73821405	chr3:20560200-20560201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572351052	chr3:20560216-20560217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542790878	chr3:20560265-20560266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191733387	chr3:20560294-20560295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569423111	chr3:20560325-20560326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538434657	chr3:20560326-20560327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555214035	chr3:20560336-20560337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113459583	chr3:20560363-20560364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543945605	chr3:20560397-20560398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370171814	chr3:20560430-20560431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184038900	chr3:20560463-20560464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532753793	chr3:20560478-20560479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551743080	chr3:20560554-20560555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566772931	chr3:20560573-20560574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55971226	chr3:20560589-20560590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549213303	chr3:20560614-20560615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367797809	chr3:20560713-20560714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188353450	chr3:20560734-20560735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140966627	chr3:20560778-20560779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114572118	chr3:20560784-20560785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552181125	chr3:20560885-20560886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571654602	chr3:20560949-20560950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538644068	chr3:20560969-20560970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11716457	chr3:20561048-20561049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572389110	chr3:20561070-20561071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542878936	chr3:20561072-20561073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34158362	chr3:20561214-20561215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192811959	chr3:20561220-20561221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185324332	chr3:20561239-20561240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190349542	chr3:20561242-20561243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20557200-20558200	Enhancers	Liver	Liver
2	chr3:20557400-20558000	Enhancers	Adipose Nuclei	Adipose
3	chr3:20559400-20569400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:20565000-20565400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:20565000-20565400	ZNF genes & repeats	Pancreas	Pancrea
6	chr3:20569000-20569800	Enhancers	Fetal Stomach	stomach
7	chr3:20569000-20571200	Enhancers	Fetal Intestine Small	intestine
8	chr3:20569200-20571200	Enhancers	Fetal Intestine Large	intestine
9	chr3:20569400-20569600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:20569600-20570000	Enhancers	Fetal Lung	lung
11	chr3:20569800-20570200	Weak transcription	Fetal Stomach	stomach
12	chr3:20570000-20570400	Weak transcription	Fetal Lung	lung
13	chr3:20570200-20571000	Enhancers	Fetal Stomach	stomach
14	chr3:20570400-20571000	Enhancers	Fetal Lung	lung

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